Chat health
From a routine check ...to a serious disease
s the midwives whisked my baby away, right after
Ashe was born,
I wasn’t worried.
My pregnancy with Sofia had been straightforward. The birth, too.
This would be nothing more than routine tests.
‘We’ll be in touch with the results,’ said a midwife as she discharged us from hospital in January 2011.
Barely giving the results a moment’s thought, I went home with our bundle of joy.
I happily braced myself for how manic family life would now be.
Me and my husband Matthew, then 35, already had our son Caleb, 17 months.
The late-night feeds and nappy changes were about to double. We could forget about sleeping – and date nights were long gone. But we couldn’t have been happier.
Weeks later, in the midst of our bliss, a senior nurse called and asked to come over. Still, I wasn’t worried.
She explained they’d carried out a routine heel-prick test. It involves taking a sample of blood to test for rare but serious health conditions.
But one had come back positive in Sofia’s blood.
‘It looks like Sofia has cystic fibrosis,’ she said.
Affecting around one in every 2,500 babies born in the UK, cystic fibrosis is an inherited condition, impacting digestion and lungs. And, ultimately, it’s life threatening.
I felt my whole body go cold, unable to take in what she was saying.
I’d been convinced Sofia was perfectly healthy.
Unsure what to say, I kept silent as the nurse continued.
‘She’ll need to see a paediatrician, who can diagnose her further,’ she said. The following day, we took Sofia to Heath Hospital. There, they confirmed she definitely had cystic fibrosis. Devastating. Feeling clueless, I didn’t know much about the condition, didn’t know what was in store for our girl.
I started bombarding the doctor with questions. That’s when he directed us to the Cystic Fibrosis Trust.
‘They will have all the information you need,’ he soothed.
So I started learning all I could about the disease. Some of it was difficult to read. There was no cure, and the average life expectancy for someone with cystic fibrosis was 40.
My heart broke. I knew then that my daughter would have to deal with this for the rest of her life.
But, thankfully, the Trust explained there were things that could help...
Daily physiotherapy and a multitude of tablets, a high-fat diet, lots of sport and activity to help her breathing.
The condition meant Sofia would be far more prone to chest infections, and playing in the park or kids’ birthday parties would be a nightmare.
But I was determined we would give Sofia a normal childhood. And that’s what we’ve been doing every day for the last eight years.
Sofia knows she has cystic fibrosis. But she doesn’t know the full extent of it – just that she needs tablets and physio to make her better.
And she’s OK with that. Myself and Matthew, 43, are campaigning with the Cystic Fibrosis Trust to raise awareness. We hope new drugs will soon become available.
Despite the condition, Sofia is thriving and we feel positive about her future. We hope that, one day soon, they’ll find a cure or make desperately needed drugs available on the NHS.
In fact, one that is as close to a cure as we’ve ever found has been licensed – but, sadly, we still can’t access it. Until the day when we can, we’ll continue to spread the word about the Trust and its work, as well as Sofia’s story.
i didn’t know what was in store for our girl
Cystic Fibrosis Week is 17-23 June. To find out more, visit cysticfibrosis.org.uk